Humans are curious creatures by nature. But what if information you gather about yourself is scarier than anticipated, or has such a dramatic impact on immediate family relations, your employment opportunities or insurability that it creates enormous tension? Would you still like to know?
A study by the University of Michigan Health System, published in the March 2015 issue of Public Health Genomics found that 59% of the total US population were interested in having predictive genetic testing done not only on themselves, but also on their children, even if there were risks that the outcome would not be relevant for years to come or the indicated genetic disorder did not have any cure. Although genetic testing seems to be in high demand and the test results provide a lot of data, the correct interpretation of such information is increasingly difficult, if not impossible, in Direct-To-Consumer (DTC) genetic testing, which excludes the involvement of health care practitioners.
What is DTC genetic testing?
DTC genetic testing entails a genetic testing service by means of a laboratory process supplied directly to the customer, without the involvement of a health care practitioner to examine and interpret the results and provide information about the risk of developing disease in the future or to diagnose active symptoms or active diseases.
DTC test kits, marketed via the internet or printed media, are usually mailed directly to the consumer for collection of a DNA sample by swabbing the inside of his/her cheek, or a blood sample with the help of a local clinic. This sample is mailed to a laboratory which notifies the consumer of his/her results via mail, telephone or e-mail. These services are offered by both local and overseas service providers.
The Southern African Society for Human Genetics (SASHG) cautions, however, that the validity and utility of genetic tests for complex multifactorial disorders, such as type 2 diabetes mellitus or cardio vascular disease, being the majority of these tests, remain scientifically questionable and are only based on a few preliminary studies.
To put these tests in context, it is important to note that tests for health-related genetic traits can, broadly speaking, be divided into two main classes:
- monogenic disorders, which involve a single gene as the direct cause of a genetic defect or pathogenic mutation causing diseases such as Huntington’s disease, cystic fibrosis and Duchenne muscular dystrophy. Genetic testing in this regard is rather straightforward as there is a clear link between cause and effect such as a mutated gene causing the likelihood that an individual might develop a certain disorder; and
- complex multifactorial disorders, which comprise the majority of human disorders and involve genetic variations in many genes together with environmental risk factors such as nutrition and lifestyle choices, which increase and individual’s susceptibility for developing conditions such as hypertension, Alzheimer’s disease, prostate cancer and cardio vascular diseases. The genetic mechanics of these diseases are complex, and when environmental factors are added to the equation it becomes even more difficult to unravel the disease process. Genetic tests in this regard may be premature and are not yet supported by rigorous scientific evidence.
Considering the complexity of multi-factorial genetic disorders, test results are often open for misinterpretation, and recipients are at risk of developing unrealistic expectations or increased anxiety and taking ill-informed and inappropriate medical and other decisions. A positive result may not necessarily mean that the individual will contract a given disease. Conversely, a negative result may not necessarily mean that an individual will never develop the disease, as he/she may harbour any one of the many other disease-causing mutations and could develop the disease as a result of environmental factors, many of which are still unknown.
Legal, ethical and medical concerns
On 19 February 2015 the US Food and Drug Administration (FDA) formally permitted 23andMe, a genetics company in California, to market the first DTC genetic carrier test of Bloom Syndrome, a disorder characterised by short stature, predisposition to the development of cancer and genomic instability, to determine whether a healthy person has a variant in this gene that could possibly lead to their offspring inheriting it. Although DTC genetic test kits have been provided to consumers on large scale in the past, this is the first time the FDA has officially permitted such a kit to be lawfully marketed. This permission followed after 23andMe was warned by the FDA in 2013 to cease providing direct health information to US customers and to stop selling this product because of its failure to obtain marketing clearance or approval to ensure that the tests were accurate, reliable and clinically meaningful.
In South Africa, specific guidelines and recommendations regarding DTC genetic testing are sorely lacking.
In general, the requirement of informed consent safeguards consumers against unwanted medical or scientific harm or exploitation and is provided for in the Constitution. Before adequate informed consent can be given, a person must comprehend and appreciate the nature and extent of the harm or risk involved with genetic testing and consent to the entire procedure including its consequences. In the absence of any human interface in the DTC process and considering the multi-factorial nature of genetic disorders, the interpretation of genetic test results is complex and actually requires the services of genetic counsellors. The DTC process might not provide sufficient opportunity to alert consumers to the information required to give informed consent.
Because genetic information qualifies as special personal information in terms of the Protection of Personal Information Act, the institution offering the DTC genetic tests must additionally obtain the consumer’s specific consent to process genetic samples and must ensure the integrity of such personal information to protect their privacy.
Although the Health Professions Council of South Africa’s (HPCSA) Guideline for Seeking Patient’s Informed Consent stipulates that, when screening or testing a healthy or asymptomatic person to detect genetic predispositions or early signs of debilitating or life threatening conditions a patient must be properly informed of the purpose, risks and uncertainties, and the likelihood of positive and negative findings, these guidelines only provide for health care practitioner-assisted genetic testing and are silent on DTC tests.
The Consumer Protection Act also prohibits false or misleading marketing which includes deceptions of the nature, properties, advantages or uses of goods or services, the conditions under which and the prices at which goods or services can be supplied or any other material aspect. People may thus not be enticed into purchasing DTC genetic tests based on false or misleading information.
Genetic testing in general could further lead to possible genetic discrimination. The Council for Responsible Genetics (CRG) in the US and the Australian Law Reform Commission have documented cases of genetic discrimination by employers who forced employees to undergo genetic testing, employers who used the information provided in test results as a basis to refuse to hire or promote otherwise suitable candidates, and health insurers who refused cover for individuals with certain genetic predispositions.
The Constitution prohibits unfair discrimination directly or indirectly based on race, gender, ethnicity or age (amongst other bases) which prohibitions are further given effect by the Promotion of Equality and Prevention of Unfair Discrimination Act 4 of 2000. Both these acts can be interpreted to prohibit unfair discriminatory practices based on genetic test results. Although the Labour Relations Act recognises incapacity due to ill health or injury as a ground for legal dismissal, a medical condition must first manifest itself to the extent that it incapacitates an employee, before an employer may legally dismiss an employee on this basis, or risk the consequences of an unfair dismissal purely based on genetic test results providing an indication of a possible future disease onset. The Employment Equity Act prohibits discrimination in general and only provides for employees to be subjected to medical testing if it is justifiable in light of medical facts, employment conditions or the inherent requirements of a job, social policy or the fair distribution of employee benefits.
Whatever reasons are proffered, one certainty is that companies offering DTC genetic test are renewing their ambitions in view of the recent FDA approval and in the expectation that the FDA will further expand the types of medically relevant information that consumer genetic tests can supply.
DTC genetic tests, the complexities involved in interpreting test results and the effects of possible genetic discrimination pose various risks to consumers. It is thus advisable to obtain a combination of legal and medical advice when faced with unsettling test results, forced genetic testing or discriminatory actions resulting from test results.
Marietjie has a BProc, LLB and LLM and was admitted as an attorney in 2001. She specialises in Medical Law.